Category Archives: Human Genetics

09 Prof. Richard Gold, Esq. Prof. Richard Gold, Esq. (McGill University Faculty of Law and Department of Human Genetics, Faculty of Medicine) presentation @ June 5, 2014 Secondary Use Patents Event. By: PublicCitizen … Continue reading →

AUSTIN, Texas--(BUSINESS WIRE)--Tragicom Studios today announced it is currently producing a feature film, MindBlinders, which promises to cause a stir within the high technology and medical communities. Set in a world of human genetics engineering, forced global inoculations and the rise of a techno-fascist leader, MindBlinders takes humankind to the brink of extinction and guarantees to cause debate. While the cognitive disorder known as mind-blindness is a central story element, it is also perhaps the defining behaviour of most individuals diagnosed with Autism Spectrum Disorders (ASD). Autism is now at epidemic proportions and currently affects one in 68 children according to Centers for Disease Control (CDC). The cause and explanation for the incredible spike in diagnosed cases over the past decade remains a hotly debated mystery. What is known is the strong genetic component to autism. Mind-blindness is a cognitive disorder that renders a person unable to read social cues or generally empathize with other individuals making common interaction very awkward. However that same socially isolated person may have amazing aptitude in areas of special interest like high tech engineering where their ability to focus on the minutia of detail allows them to thrive and pass on their genetics. The … Continue reading →

System promises to sequence tens of thousands of human whole genomes a year in a single laboratory. What do the first customers think? Life science technology company Illumina recently launched a sequencing platform that it claims will enable the $1,000 genome. The HiSeq X Ten Sequencing System comprises 10 ultra-high-throughput sequencers which together can sequence more than 18,000 genomes per year, making human whole-genome sequencing more affordable and accessible than ever before. The system builds on the proven performance of SBS (sequencing by synthesis) technology and features patterned flow cells that contain billions of nanowells at fixed locations; this, combined with a new clustering chemistry, generates data density of 6 billion clusters per run. Add in the state-of-the art optics and faster chemistry, and the result is a tenfold increase in daily throughput over the current HiSeq 2500 high-throughput sequencing system. The new platform is sold as a set of 10 or more ultra-high throughput sequencing systems, each generating up to 600 gigabases per day, per system, providing the throughput to sequence tens of thousands of high-quality, high-coverage genomes per year. Among the first customers for the system are the Garvan Institute of Medical Research in Sydney, Australia; the Broad … Continue reading →

Humanity's genetic split from an ape-like ancestor came about 13 million years ago, far earlier than the long-supposed era of a common ancestor of early humans and apes, suggests a first study of chimp gene mutations. Along with shining a new genetic light on human origins, the findings published on Thursday in the journal Science point to the role that evolution plays in fostering mutations, some linked to inherited diseases, in our genes. On the surface, this and other recent studies contradict the general consensus suggested by the fossil record: that the last common ancestor of the two species, a flat-footed ape, lived some seven million years ago. But both observations could still be true, said paleoanthropologist John Hawks of the University of Wisconsin, Madison, who was not involved in the new study. The ape-like common ancestor species might have endured until 7 to 10 million years ago, long after the genetic split between chimps and humans, he said. That would largely explain the difference seen between gene-based and fossil-based estimates of the date the species diverged. "We also don't know if mutation rates varied widely in the ancient past; maybe they were different than now," says study senior author … Continue reading →

Chinakov Vs. The Hidden Ep 4: Lets Play Some Xbox Me And Steven play some ooky spooky "The HIdden" In the early 1950s human genetics experimentation was taking its first, tentative steps. Amongst many other black projects, a team of British... By: ChinakovVS … Continue reading →

ESHG14 Update on Ion PII and Ion Chef from Andy Felton After his presentation at the European Society of Human Genetics (ESHG) annual meeting, we caught up with Andy Felton, head of Ion Torrent product management, to get an update on the Ion Chef... By: Life Technologies … Continue reading →

PUBLIC RELEASE DATE: 1-Jun-2014 Contact: Mary Rice mary.rice@riceconseil.eu European Society of Human Genetics New understanding of the genes involved in taste perception and food preferences could lead to personalised nutrition plans effective not just in weight loss but in avoiding diseases such as cancer, depression, and hypertension, Italian researchers will tell the annual conference of the European Society of Human Genetics (ESHG) today (Monday). Knowing why individuals prefer certain food tastes and being able to personalise health interventions based on them will help people age in a healthier way and greatly improve their quality of life, as well as engender considerable savings for health systems, they say. Dr Nicola Pirastu and Dr Antonietta Robino, from the University of Trieste and the IRCCS Burlo Garofolo Institute for Maternal and Child Health, Trieste, Italy, set out to identify novel genes and pathways involved in taste perception and food preferences, and to investigate their implications in protecting against or predisposing to diet-related disorders such as overweight, obesity, and diabetes. "To date most studies have focused on specific taste receptors, especially bitter ones, and this has been partly successful in an attempt to understand the genetics behind the perception of specific compounds such as … Continue reading →

PUBLIC RELEASE DATE: 1-Jun-2014 Contact: Mary Rice mary.rice@riceconseil.eu 33-668-930-650 European Society of Human Genetics Analysis of genetic variation in the exome, the DNA sequence of genes that are translated into protein, can aid in uncovering the cause of conditions for which no genetic cause could previously be found, and this can directly impact clinical management, the annual conference of the European Society of Human Genetics will hear today. Dr Jayne Hehir-Kwa, Assistant Professor of Bioinformatics in the Translational Research group, Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands, will describe results from her group's study that set out to determine whether copy number variants (CNVs), large genomic deletions or duplications, can contribute to diseases other than intellectual disability. The role of CNVs in intellectual disability is well known, but their implication in other conditions is less so. "There are, for example, case reports describing deletions in blindness, but no-one has determined the full extent of CNVs in other patient groups," Dr Hehir-Kwa will say. The team screened 600 patients for which no diagnosis or causal mutation could be found using current whole exome sequencing (WES) methodology, and looked genome-wide for a causal deletion or duplication. It is, they say, … Continue reading →

A new target that may be critical for the treatment of osteoporosis, a disease which affects about 25% of post-menopausal women, has been discovered by a group of researchers in The Netherlands and in Germany. Professor Brunhilde Wirth, Head of the Institute of Human Genetics, University of Cologne, Germany, will tell the annual conference of the European Society of Human Genetics tomorrow (Sunday) that new studies in zebrafish and mice have shown that injection of human plastin 3 (PLS3) or related proteins in zebrafish where PLS3 action has been suppressed can replace its loss and repair the bone development anomalies associated with this deficiency. Furthermore, overexpression of human (PLS3) in normal mice had a significant impact on bone development and maintenance, making them more resistant to fractures. The discovery that PLS3 mutations could cause osteoporosis was published last year in The New England Journal of Medicine. The results came as a surprise to the researchers, since mutations in the PLS3 gene had not previously been known to be related to osteoporosis and fractures, or to play a role in bone formation. In our most recent research, we started out by using zebrafish embryos in which PLS3 was knocked-out and studying … Continue reading →

PUBLIC RELEASE DATE: 31-May-2014 Contact: Mary Rice mary.rice@riceconseil.eu 33-668-930-650 European Society of Human Genetics With services based on exome sequencing becoming affordable to patients at a reasonable price, the question of the quality of the results provided has become increasingly important. The exome is the DNA sequence of genes that are translated into protein. These protein-coding regions contain most of the currently-known disease-causing genetic mutations. The American College of Medical Genetics and Genomics (ACMG) has recommended the reporting to patients of clinically actionable incidental genetic findings in the course of clinical exome testing. Specifically, mutations of 56 specific genes with known clinical importance should be reported even when they are incidental to the patient's current medical condition. However, a new study to be reported to the annual conference of the European Society of Human Genetics (ESHG) today (Sunday) shows that exome sequencing, as currently performed, does not always produce high quality results when examining subsets of genes such as the 56 ACMG genes. Dr Eric Londin1, Assistant Professor in the Computational Medicine Centre, Department of Pathology, Anatomy and Cellular Biology, Thomas Jefferson University, Philadelphia, USA, will tell the conference that analysis of 44 exome datasets from four different testing kits … Continue reading →